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Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08476-7
By:
- Demal, Till Joscha;
- Scholz, Tasja;
- Schüler, Helke;
- Olfe, Jakob;
- Fröhlich, Anja;
- Speth, Fabian;
- von Kodolitsch, Yskert;
- Mir, Thomas S.;
- Reichenspurner, Hermann;
- Kubisch, Christian;
- Hempel, Maja;
- Rosenberger, Georg
Publication type:
Article
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
Published in:
Neonatology (16617800), 2021, v. 118, n. 4, p. 454, doi. 10.1159/000516890
By:
- Scholz, Tasja;
- Blohm, Martin Ernst;
- Kortüm, Fanny;
- Bierhals, Tatjana;
- Lessel, Davor;
- van der Ven, Amelie T.;
- Lisfeld, Jasmin;
- Herget, Theresia;
- Kloth, Katja;
- Singer, Dominique;
- Perez, Anna;
- Obi, Nadia;
- Johannsen, Jessika;
- Denecke, Jonas;
- Santer, René;
- Kubisch, Christian;
- Deindl, Philipp;
- Hempel, Maja
Publication type:
Article
Phenotypic and molecular insights into CASK-related disorders in males.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0256-3
By:
- Moog, Ute;
- Bierhals, Tatjana;
- Brand, Kristina;
- Bautsch, Jan;
- Biskup, Saskia;
- Brune, Thomas;
- Denecke, Jonas;
- de Die-Smulders, Christine E.;
- Evers, Christina;
- Hempel, Maja;
- Henneke, Marco;
- Yntema, Helger;
- Menten, Björn;
- Pietz, Joachim;
- Pfundt, Rolph;
- Schmidtke, Jörg;
- Steinemann, Doris;
- Stumpel, Constance T.;
- Van Maldergem, Lionel;
- Kutsche, Kerstin
Publication type:
Article
Phenotypic and molecular insights into CASK-related disorders in males.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 44, doi. 10.1186/s13023-015-0256-3
By:
- Moog, Ute;
- Bierhals, Tatjana;
- Brand, Kristina;
- Bautsch, Jan;
- Biskup, Saskia;
- Brune, Thomas;
- Denecke, Jonas;
- de Die-Smulders, Christine E;
- Evers, Christina;
- Hempel, Maja;
- Henneke, Marco;
- Yntema, Helger;
- Menten, Björn;
- Pietz, Joachim;
- Pfundt, Rolph;
- Schmidtke, Jörg;
- Steinemann, Doris;
- Stumpel, Constance T;
- Van Maldergem, Lionel;
- Kutsche, Kerstin
Publication type:
Article
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1436, doi. 10.1093/brain/awad380
By:
- Kaiyrzhanov, Rauan;
- Rad, Aboulfazl;
- Lin, Sheng-Jia;
- Bertoli-Avella, Aida;
- Kallemeijn, Wouter W;
- Godwin, Annie;
- Zaki, Maha S;
- Huang, Kevin;
- Lau, Tracy;
- Petree, Cassidy;
- Efthymiou, Stephanie;
- Karimiani, Ehsan Ghayoor;
- Hempel, Maja;
- Normand, Elizabeth A;
- Rudnik-Schöneborn, Sabine;
- Schatz, Ulrich A;
- Baggelaar, Marc P;
- Ilyas, Muhammad;
- Sultan, Tipu;
- Alvi, Javeria Raza
Publication type:
Article
Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy.
Published in:
2022
By:
- Dahimene, Shehrazade;
- Elsner, Leonie von;
- Holling, Tess;
- Mattas, Lauren S;
- Pickard, Jess;
- Lessel, Davor;
- Pilch, Kjara S;
- Kadurin, Ivan;
- Pratt, Wendy S;
- Zhulin, Igor B;
- Dai, Hongzheng;
- Hempel, Maja;
- Ruzhnikov, Maura R Z;
- Kutsche, Kerstin;
- Dolphin, Annette C;
- von Elsner, Leonie
Publication type:
journal article
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation.
Published in:
2022
By:
- Elsner, Leonie von;
- Chai, Guoliang;
- Schneeberger, Pauline E;
- Harms, Frederike L;
- Casar, Christian;
- Qi, Minyue;
- Alawi, Malik;
- Abdel-Salam, Ghada M H;
- Zaki, Maha S;
- Arndt, Florian;
- Yang, Xiaoxu;
- Stanley, Valentina;
- Hempel, Maja;
- Gleeson, Joseph G;
- Kutsche, Kerstin;
- von Elsner, Leonie
Publication type:
journal article
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Published in:
2018
By:
- Lessel, Davor;
- Gehbauer, Christina;
- Bramswig, Nuria C;
- Schluth-Bolard, Caroline;
- Venkataramanappa, Sathish;
- Gassen, Koen L I van;
- Hempel, Maja;
- Haack, Tobias B;
- Baresic, Anja;
- Genetti, Casie A;
- van Gassen, Koen L I;
- Funari, Mariana F A;
- Lessel, Ivana;
- Kuhlmann, Leonie;
- Simon, Ruth;
- Liu, Pentao;
- Denecke, Jonas;
- Kuechler, Alma;
- de Kruijff, Ineke;
- Shoukier, Moneef
Publication type:
journal article
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
Published in:
PLoS Genetics, 2020, v. 16, n. 3, p. 1, doi. 10.1371/journal.pgen.1008625
By:
- Coste de Bagneaux, Pierre;
- von Elsner, Leonie;
- Bierhals, Tatjana;
- Campiglio, Marta;
- Johannsen, Jessika;
- Obermair, Gerald J.;
- Hempel, Maja;
- Flucher, Bernhard E.;
- Kutsche, Kerstin
Publication type:
Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
Published in:
Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
By:
- Kreienkamp, Hans-Jürgen;
- Wagner, Matias;
- Weigand, Heike;
- McConkie-Rossell, Allyn;
- McDonald, Marie;
- Keren, Boris;
- Mignot, Cyril;
- Gauthier, Julie;
- Soucy, Jean-François;
- Michaud, Jacques L.;
- Dumas, Meghan;
- Smith, Rosemarie;
- Löbel, Ulrike;
- Hempel, Maja;
- Kubisch, Christian;
- Denecke, Jonas;
- Campeau, Philippe M.;
- Bain, Jennifer M.;
- Lessel, Davor
Publication type:
Article
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01019-9
By:
- Yépez, Vicente A.;
- Gusic, Mirjana;
- Kopajtich, Robert;
- Mertes, Christian;
- Smith, Nicholas H.;
- Alston, Charlotte L.;
- Ban, Rui;
- Beblo, Skadi;
- Berutti, Riccardo;
- Blessing, Holger;
- Ciara, Elżbieta;
- Distelmaier, Felix;
- Freisinger, Peter;
- Häberle, Johannes;
- Hayflick, Susan J.;
- Hempel, Maja;
- Itkis, Yulia S.;
- Kishita, Yoshihito;
- Klopstock, Thomas;
- Krylova, Tatiana D.
Publication type:
Article
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 11, p. 3098, doi. 10.1002/ajmg.a.38406
By:
- Said, Edith;
- Chong, Jessica X.;
- Hempel, Maja;
- Denecke, Jonas;
- Soler, Paul;
- Strom, Tim;
- Nickerson, Deborah A.;
- Kubisch, Christian;
- Bamshad, Michael J.;
- Lessel, Davor
Publication type:
Article
Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1421, doi. 10.1002/ajmg.a.35883
By:
- Salem, Nabeel J.M.;
- Hempel, Maja;
- Heiliger, Katrin‐Janine;
- Hosie, Stuart;
- Meitinger, Thomas;
- Oexle, Konrad
Publication type:
Article
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.
Published in:
Human Genetics, 2017, v. 136, n. 3, p. 339, doi. 10.1007/s00439-017-1762-2
By:
- Hempel, Maja;
- Casar Tena, Teresa;
- Diehl, Thilo;
- Burczyk, Martina;
- Strom, Tim;
- Kubisch, Christian;
- Philipp, Melanie;
- Lessel, Davor
Publication type:
Article
Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10849-y
By:
- Filatova, Alina;
- Rey, Linda K.;
- Lechler, Marion B.;
- Schaper, Jörg;
- Hempel, Maja;
- Posmyk, Renata;
- Szczaluba, Krzysztof;
- Santen, Gijs W. E.;
- Wieczorek, Dagmar;
- Nuber, Ulrike A.
Publication type:
Article
Recurrent hypoglycemia due to growth hormone deficiency in an infant with Turner syndrome.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2012, v. 25, n. 9/10, p. 991, doi. 10.1515/jpem-2012-0103
By:
- Bonfig, Walter;
- Salem, Nabeel J.M.;
- Heiliger, Katrin;
- Hempel, Maja;
- Lederer, Gaby;
- Bornkamm, Milena;
- Wieland, Karen;
- Lohse, Peter;
- Burdach, Stefan;
- Oexle, Konrad
Publication type:
Article
de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-49032-0
By:
- Schneeberger, Pauline E.;
- Bierhals, Tatjana;
- Neu, Axel;
- Hempel, Maja;
- Kutsche, Kerstin
Publication type:
Article
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Published in:
Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-020-01659-3
By:
- Bley, Annette;
- Denecke, Jonas;
- Kohlschütter, Alfried;
- Schön, Gerhard;
- Hischke, Sandra;
- Guder, Philipp;
- Bierhals, Tatjana;
- Lau, Heather;
- Hempel, Maja;
- Eichler, Florian S.
Publication type:
Article
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Published in:
2021
By:
- Stenton, Sarah L.;
- Sheremet, Natalia L.;
- Catarino, Claudia B.;
- Andreeva, Natalia A.;
- Assouline, Zahra;
- Barboni, Piero;
- Barel, Ortal;
- Berutti, Riccardo;
- Bychkov, Igor;
- Caporali, Leonardo;
- Capristo, Mariantonietta;
- Carbonelli, Michele;
- Cascavilla, Maria L.;
- Issa, Peter Charbel;
- Freisinger, Peter;
- Gerber, Sylvie;
- Ghezzi, Daniele;
- Graf, Elisabeth;
- Heidler, Juliana;
- Hempel, Maja
Publication type:
journal article
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.
Published in:
2019
By:
- Burkhalter, Martin D.;
- Sridhar, Arthi;
- Sampaio, Pedro;
- Jacinto, Raquel;
- Burczyk, Martina S.;
- Donow, Cornelia;
- Angenendt, Max;
- Hempel, Maja;
- Walther, Paul;
- Pennekamp, Petra;
- Omran, Heymut;
- Lopes, Susana S.;
- Ware, Stephanie M.;
- Philipp, Melanie;
- Competence Network for Congenital Heart Defects Investigators
Publication type:
journal article
Fatal COVID-19 in a Child with Persistence of SARS-CoV-2 Despite Extensive Multidisciplinary Treatment: A Case Report.
Published in:
Children, 2021, v. 8, n. 7, p. 1, doi. 10.3390/children8070564
By:
- Apostolidou, Sofia;
- Harbauer, Theresa;
- Lasch, Peter;
- Biermann, Daniel;
- Hempel, Maja;
- Lütgehetmann, Marc;
- Pfefferle, Susanne;
- Herrmann, Jochen;
- Rüffer, André;
- Reinshagen, Konrad;
- Kozlik-Feldmann, Rainer;
- Gieras, Anna;
- Kniep, Inga;
- Oh, Jun;
- Singer, Dominique;
- Ebenebe, Chinedu Ulrich;
- Kobbe, Robin
Publication type:
Article
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 6, p. 917, doi. 10.1093/hmg/ddac246
By:
- Arribas-Carreira, Laura;
- Dallabona, Cristina;
- Swanson, Michael A;
- Farris, Joseph;
- Østergaard, Elsebet;
- Tsiakas, Konstantinos;
- Hempel, Maja;
- Aquaviva-Bourdain, Cecile;
- Koutsoukos, Stefanos;
- Stence, Nicholas V;
- Magistrati, Martina;
- Spector, Elaine B;
- Kronquist, Kathryn;
- Christensen, Mette;
- Karstensen, Helena G;
- Feichtinger, René G;
- Achleitner, Melanie T;
- II, J Lawrence Merritt;
- Pérez, Belén;
- Ugarte, Magdalena
Publication type:
Article
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 766, doi. 10.1111/cge.14061
By:
- van der Ven, Amelie T.;
- Johannsen, Jessika;
- Kortüm, Fanny;
- Wagner, Matias;
- Tsiakas, Konstantinos;
- Bierhals, Tatjana;
- Lessel, Davor;
- Herget, Theresia;
- Kloth, Katja;
- Lisfeld, Jasmin;
- Scholz, Tasja;
- Obi, Nadia;
- Wortmann, Saskia;
- Prokisch, Holger;
- Kubisch, Christian;
- Denecke, Jonas;
- Santer, René;
- Hempel, Maja
Publication type:
Article
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center.
Published in:
Clinical Genetics, 2021, v. 100, n. 1, p. 14, doi. 10.1111/cge.13946
By:
- Brunet, Theresa;
- Jech, Robert;
- Brugger, Melanie;
- Kovacs, Reka;
- Alhaddad, Bader;
- Leszinski, Gloria;
- Riedhammer, Korbinian M.;
- Westphal, Dominik S.;
- Mahle, Isabella;
- Mayerhanser, Katharina;
- Skorvanek, Matej;
- Weber, Sandrina;
- Graf, Elisabeth;
- Berutti, Riccardo;
- Necpál, Ján;
- Havránková, Petra;
- Pavelekova, Petra;
- Hempel, Maja;
- Kotzaeridou, Urania;
- Hoffmann, Georg F.
Publication type:
Article
Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS‐DMR) in 11p15.5.
Published in:
Clinical Genetics, 2020, v. 98, n. 4, p. 418, doi. 10.1111/cge.13820
By:
- Eggermann, Thomas;
- Kraft, Florian;
- Kloth, Katja;
- Klopocki, Eva;
- Hüning, Irina;
- Hempel, Maja;
- Kunstmann, Erdmute
Publication type:
Article
16p13.11 microdeletion uncovers loss‐of‐function of a MYH11 missense variant in a patient with megacystis‐microcolon‐intestinal‐hypoperistalsis syndrome.
Published in:
Clinical Genetics, 2019, v. 96, n. 1, p. 85, doi. 10.1111/cge.13557
By:
- Kloth, Katja;
- Renner, Sina;
- Burmester, Gunter;
- Steinemann, Doris;
- Pabst, Brigitte;
- Lorenz, Birgit;
- Simon, Ronald;
- Kolbe, Verena;
- Hempel, Maja;
- Rosenberger, Georg
Publication type:
Article
Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness.
Published in:
Deutsches Ärzteblatt International, 2019, v. 116, n. 12, p. 197, doi. 10.3238/arztebl.2019.0197
By:
- Mahler, Elisa A.;
- Johannsen, Jessika;
- Tsiakas, Konstantinos;
- Kloth, Katja;
- Lüttgen, Sabine;
- Mühlhausen, Chris;
- Alhaddad, Bader;
- Haack, Tobias B.;
- Strom, Tim M.;
- Kortüm, Fanny;
- Meitinger, Thomas;
- Muntau, Ania C.;
- Santer, René;
- Kubisch, Christian;
- Lessel, Davor;
- Denecke, Jonas;
- Hempel, Maja
Publication type:
Article
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
Published in:
2021
By:
- Bley, Annette;
- Denecke, Jonas;
- Kohlschütter, Alfried;
- Schön, Gerhard;
- Hischke, Sandra;
- Guder, Philipp;
- Bierhals, Tatjana;
- Lau, Heather;
- Hempel, Maja;
- Eichler, Florian S.
Publication type:
journal article
Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia.
Published in:
Annals of Neurology, 2021, v. 90, n. 5, p. 738, doi. 10.1002/ana.26228
By:
- Schob, Claudia;
- Hempel, Maja;
- Safka Brozkova, Dana;
- Jiang, Huafang;
- Kim, Soo Yeon;
- Batzir, Nurit Assia;
- Orenstein, Naama;
- Bierhals, Tatjana;
- Johannsen, Jessika;
- Uhrova Meszarosova, Anna;
- Chae, Jong‐Hee;
- Seeman, Pavel;
- Woidy, Mathias;
- Fang, Fang;
- Kubisch, Christian;
- Kindler, Stefan;
- Denecke, Jonas
Publication type:
Article
Recessive mutations in VPS13D cause childhood onset movement disorders.
Published in:
2018
By:
- Gauthier, Julie;
- Meijer, Inge A.;
- Lessel, Davor;
- Mencacci, Niccolò E.;
- Krainc, Dimitri;
- Hempel, Maja;
- Tsiakas, Konstantinos;
- Prokisch, Holger;
- Rossignol, Elsa;
- Helm, Margaret H.;
- Rodan, Lance H.;
- Karamchandani, Jason;
- Carecchio, Miryam;
- Lubbe, Steven J.;
- Telegrafi, Aida;
- Henderson, Lindsay B.;
- Lorenzo, Kerry;
- Wallace, Stephanie E.;
- Glass, Ian A.;
- Hamdan, Fadi F.
Publication type:
journal article
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
Published in:
Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 943, doi. 10.1007/s10545-012-9513-y
By:
- Haack, Tobias;
- Makowski, Christine;
- Yao, Yoshiaki;
- Graf, Elisabeth;
- Hempel, Maja;
- Wieland, Thomas;
- Tauer, Ulrike;
- Ahting, Uwe;
- Mayr, Johannes;
- Freisinger, Peter;
- Yoshimatsu, Hiroki;
- Inui, Ken;
- Strom, Tim;
- Meitinger, Thomas;
- Yonezawa, Atsushi;
- Prokisch, Holger
Publication type:
Article
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1.
Published in:
Brain Communications, 2023, v. 5, n. 1, p. 1, doi. 10.1093/braincomms/fcad017
By:
- Park, Julien H.;
- Nordström, Ulrika;
- Tsiakas, Konstantinos;
- Keskin, Isil;
- Elpers, Christiane;
- Mannil, Manoj;
- Heller, Raoul;
- Nolan, Melinda;
- Alburaiky, Salam;
- Zetterström, Per;
- Hempel, Maja;
- Schara-Schmidt, Ulrike;
- Biskup, Saskia;
- Steinacker, Petra;
- Otto, Markus;
- Weishaupt, Jochen;
- Hahn, Andreas;
- Santer, René;
- Marquardt, Thorsten;
- Marklund, Stefan L.
Publication type:
Article
Genetic variants in patients with multiple arterial aneurysms.
Published in:
Langenbeck's Archives of Surgery, 2024, v. 409, n. 1, p. 1, doi. 10.1007/s00423-024-03488-5
By:
- Körfer, Daniel;
- Grond-Ginsbach, Caspar;
- Peters, Andreas S.;
- Burkart, Sebastian;
- Hempel, Maja;
- Schaaf, Christian P.;
- Böckler, Dittmar;
- Erhart, Philipp
Publication type:
Article
Recurrent multiple spinal paragangliomas as a manifestation of a metastatic composite paraganglioma-ganglioneuroblastoma.
Published in:
2013
By:
- Gempt, Jens;
- Baldawa, Sachin;
- Weirich, Gregor;
- Delbridge, Claire;
- Hempel, Maja;
- Lohse, Peter;
- Meyer, Bernhard;
- Ringel, Florian
Publication type:
Letter
Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe.
Published in:
Prenatal Diagnosis, 2014, v. 34, n. 2, p. 185, doi. 10.1002/pd.4278
By:
- Stumm, Markus;
- Entezami, Michael;
- Haug, Karsten;
- Blank, Cornelia;
- Wüstemann, Max;
- Schulze, Bernt;
- Raabe‐Meyer, Gisela;
- Hempel, Maja;
- Schelling, Markus;
- Ostermayer, Eva;
- Langer‐Freitag, Sabine;
- Burkhardt, Tilo;
- Zimmermann, Roland;
- Schleicher, Tina;
- Weil, Bernd;
- Schöck, Ulrike;
- Smerdka, Patricia;
- Grömminger, Sebastian;
- Kumar, Yadhu;
- Hofmann, Wera
Publication type:
Article
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
Published in:
Human Mutation, 2010, v. 31, n. 11, p. E1851, doi. 10.1002/humu.21362
By:
- Horn, Denise;
- Kapeller, Johannes;
- Rivera-Brugués, Núria;
- Moog, Ute;
- Lorenz-Depiereux, Bettina;
- Eck, Sebastian;
- Hempel, Maja;
- Wagenstaller, Janine;
- Gawthrope, Alex;
- Monaco, Anthony P.;
- Bonin, Michael;
- Riess, Olaf;
- Wohlleber, Eva;
- Illig, Thomas;
- Bezzina, Connie R.;
- Franke, Andre;
- Spranger, Stephanie;
- Villavicencio-Lorini, Pablo;
- Seifert, Wenke;
- Rosenfeld, Jochen
Publication type:
Article
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Published in:
Neurogenetics, 2020, v. 21, n. 2, p. 121, doi. 10.1007/s10048-019-00602-4
By:
- Harting, Inga;
- Al-Saady, Murtadha;
- Krägeloh-Mann, Ingeborg;
- Bley, Annette;
- Hempel, Maja;
- Bierhals, Tatjana;
- Karch, Stephanie;
- Moog, Ute;
- Bernard, Geneviève;
- Huntsman, Richard;
- van Spaendonk, Rosalina M. L.;
- Vreeburg, Maaike;
- Rodríguez-Palmero, Agustí;
- Pujol, Aurora;
- van der Knaap, Marjo S.;
- Pouwels, Petra J. W.;
- Wolf, Nicole I.
Publication type:
Article
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
Published in:
Neurogenetics, 2017, v. 18, n. 4, p. 227, doi. 10.1007/s10048-017-0526-4
By:
- Glasgow, Ruth;
- Thompson, Kyle;
- Barbosa, Inês;
- He, Langping;
- Alston, Charlotte;
- Deshpande, Charu;
- Simpson, Michael;
- Morris, Andrew;
- Neu, Axel;
- Löbel, Ulrike;
- Hall, Julie;
- Prokisch, Holger;
- Haack, Tobias;
- Hempel, Maja;
- McFarland, Robert;
- Taylor, Robert
Publication type:
Article
Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation.
Published in:
Movement Disorders, 2013, v. 28, n. 2, p. 224, doi. 10.1002/mds.25256
By:
- Schulte, Eva C.;
- Claussen, Malte C.;
- Jochim, Angela;
- Haack, Tobias;
- Hartig, Monika;
- Hempel, Maja;
- Prokisch, Holger;
- Haun‐Jünger, Ursula;
- Winkelmann, Juliane;
- Hemmer, Bernhard;
- Förschler, Annette;
- Ilg, Rüdiger
Publication type:
Article

Found: 39